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Barth syndrome
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Person
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publication
Heart failure as initial manifestation of Barth syndrome
2014 |
First Faculty of Medicine
publication
Novel Mutations in the TAZ Gene in Patients with Barth Syndrome
2013 |
First Faculty of Medicine
publication
ALCAT1 Overexpression Affects Supercomplex Formation and Increases ROS in Respiring Mitochondria
2019 |
Third Faculty of Medicine
publication
TMEM70 deficiency: long-term outcome of 48 patients
2015 |
First Faculty of Medicine
publication
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
2012 |
First Faculty of Medicine
publication
Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C
2015 |
First Faculty of Medicine